Tuesday night Jeremy and I headed downtown to the Rett Syndrome Research Trust’s movie premiere of a new documentary, Rett: There is Hope. It was a chance to for me meet Monica Coenraads, the Executive Director of Rett Syndrome Research Trust and Dr. Huda Zoghbi, who discovered the Rett gene in 1999; I’ve not had the chance to meet either of these women before Tuesday night. There are a number of Rett Syndrome charitable organizations out there, and they all do good work, but this is my favorite one, all the money goes to the research labs and that’s where I like it all to go. I loved hearing Monica and Huda speak about the research, I do wish I was patient enough to read through all the interesting Rett-related science papers, but I am lazy. And a little tired and nothing makes one fall asleep faster than a dense scientific paper with small print.
I was surprised to hear them both back away from using the word “cure” which, when I started on this Rett Syndrome journey seven years ago (July 4th was our diagnosis day, I didn’t even think about it when that day passed), was a word I heard ALL the time. I think everyone remains very optimistic about future treatments that will bring good quality of life improvements, but to have an all out cure within a time scale that is relevant to us or Edda is not very likely. As Huda said, the girls, by the time they are even Edda’s age (and she is not that old), she’s missed all the chances for typical language acquisition, for developing fine motor skills, etc at the regular time, so it’s very difficult to make that all up again even if her MECP2 function was perfectly restored. It was great to see our local families turn out for this event, I think our local DC group is pretty strong and supportive of each other. I’m happy also that after meeting all these folks, I’m still content that this is the right place for our donations to go. Go science!